NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp)
|
rs10282312
|
0.98349
|
NM_000083.3(CLCN1):c.1167-141G>T
|
rs2367941
|
0.87709
|
NM_000083.3(CLCN1):c.1065-108G>A
|
rs2242493
|
0.63143
|
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=)
|
rs2272251
|
0.44456
|
NM_000083.3(CLCN1):c.1402-9C>T
|
rs2272252
|
0.44267
|
NM_000083.3(CLCN1):c.433+72C>G
|
rs7800971
|
0.43455
|
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu)
|
rs13438232
|
0.39778
|
NM_000083.3(CLCN1):c.2284+33C>G
|
rs56680997
|
0.39032
|
NM_000083.3(CLCN1):c.261C>T (p.Thr87=)
|
rs6962852
|
0.37404
|
NM_000083.3(CLCN1):c.301+27T>A
|
rs6948526
|
0.15429
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
|
rs121912799
|
0.00028
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)
|
rs185031797
|
0.00015
|
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)
|
rs112282456
|
0.00010
|
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)
|
rs749205522
|
0.00004
|
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile)
|
rs767209392
|
0.00004
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)
|
rs764100025
|
0.00002
|
NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro)
|
rs1279658001
|
0.00001
|
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)
|
rs80356696
|
0.00001
|
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro)
|
rs1554434814
|
0.00001
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)
|
rs202179484
|
0.00001
|
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
CLCN1, TRP433ARG
|
|
|
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys)
|
rs1802715644
|
|
NM_000083.3(CLCN1):c.1028T>G (p.Phe343Cys)
|
rs1291895685
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr)
|
rs80356695
|
|
NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser)
|
rs80356695
|
|
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)
|
rs80356694
|
|
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu)
|
rs1312002847
|
|
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1586C>T (p.Ala529Val)
|
|
|
NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala)
|
rs1474851853
|
|
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)
|
rs1269268607
|
|
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro)
|
rs1009716258
|
|
NM_000083.3(CLCN1):c.2172+1G>A
|
rs1273524525
|
|
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala)
|
rs539404339
|
|
NM_000083.3(CLCN1):c.2550C>A (p.Tyr850Ter)
|
|
|
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)
|
rs80356699
|
|
NM_000083.3(CLCN1):c.395G>C (p.Ser132Thr)
|
rs775224495
|
|
NM_000083.3(CLCN1):c.399G>C (p.Trp133Cys)
|
|
|
NM_000083.3(CLCN1):c.462G>C (p.Gln154His)
|
|
|
NM_000083.3(CLCN1):c.562+5G>C
|
|
|
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp)
|
rs1554434857
|
|
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe)
|
rs121912810
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg)
|
rs2116838620
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)
|
rs746691295
|
|
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)
|
rs1554435319
|
|
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe)
|
rs2116842824
|
|
NM_000083.3(CLCN1):c.869T>C (p.Ile290Thr)
|
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000083.3(CLCN1):c.918C>A (p.Phe306Leu)
|
|
|
NM_000083.3(CLCN1):c.938C>T (p.Ala313Val)
|
rs2116852322
|
|
NM_000083.3(CLCN1):c.961G>A (p.Val321Met)
|
rs2116852366
|
|
NM_000083.3(CLCN1):c.983C>A (p.Thr328Asn)
|
rs780421370
|
|
NM_000083.3(CLCN1):c.998T>C (p.Phe333Ser)
|
rs2116852892
|
|